Current Project
Genotypic and phenotypic characterization of xeroderma pigmentosum (XP), cockayne syndrome (CS) and trichothiodystrophy (TTD) patients in Brazil
Deficiencies in nucleotide excision repair lead to human disorders where patients
display photosensitivity and/or neurological problems, such as xeroderma pigmentosum
(XP), cockayne syndrome (CS) and trichothiodystrophy (TTD). Case reports and
genotypic descriptions of patients have been published worldwide, mainly in North
America, Europe, Africa and Japan. The follow up of these patients for decades and the study with these
cells led to the understanding of what is currently known about the molecular pathways and genetic
defects involved in the phenotypes of these syndromes. In Brazil, a few case-reports describe some patients
with these phenotypes, and genetic and molecular characterizations are scarce. With the possibility to
identify mutations directly by Next Generation Sequencing (NGS) technique, we initiated a project to
diagnose the mutations involved in these NER syndromes, mainly XP. Therefore, we also plan to investigate
the origins of these mutations and ancestries by the analysis of haplotypes with SNP-array assays.
Parte da arvore genealógica da comunidade de Araras(GO)
Publications
Munford V*, Castro LP*, Souto R, Lerner LK, Vilar JB, Quayle C, Asif H, Schuch AP, de Souza TA, Ienne S,
Alves FIA, Moura LMS, Galante PAF, Camargo AA, Liboredo R, Pena SDJ, Sarasin A, Chaibub SC, Menck CFM
(2017). A genetic cluster of patients with variant xeroderma pigmentosum with two different founder
mutations. British Journal of Dermatology. 176 (5), 1270-1278.
Pedroso JL, Munford V, Bastos AU, Castro LP, Marussi VHR, Silva GS, Arita JH, Menck CFM, Barsottini OG
(2017). LMNB1 mutation causes cerebellar involvement and a genome instability defect. Journal of the
Neurological Sciences. 379:249-252.
Lerner LK, Francisco G, Soltys DT, Rocha CR, Quinet A, Vessoni AT, Castro LP, David TI, Bustos SO, Strauss
BE, Gottifredi V, Stary A, Sarasin A, Chammas R, Menck CF (2016). Predominant role of DNA polymerase eta
and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells. Nucleic Acids
Research. 45 (3), 1270-1280.
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